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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IQCK

Variant:p.T31T

IQCK

16p12.3 (UCSC)GTEx

19 papers

RefSeq Summary

This gene belongs to the IQ motif-containing family of proteins. The IQ motif serves as a binding site for different EF-hand proteins such as calmodulin. This gene was identified as a potential candid...

Gene Aliases

HGNC Name

IQ motif containing K

HGNC Alias Symbols

MGC35048; FLJ36575

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr16:19718399 C>T

NM_153208.3

p.T31T

c.93C>T

Exome: 1.1% (AC=16133, hom=111)Genome: 0.8% (AC=1187, hom=7)6 overlapping SVs

Surrounding Variants

chr16:19718437 GGC>G

NM_153208.3

p.W44_Q45delFs

c.132_133delGC

exact variant not in gnomAD6 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."